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<meta name="keywords" content="C1832409, ciliary neurotrophic factor receptor-related disorder, ciss, cntf receptor-related disorders, cold-induced sweating syndrome, crisponi syndrome, disease or syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death, sohar-crisponi syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=321950
|
||
ConceptID=C1832409
|
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image003.gif" src-large="/books/NBK52917/bin/ciss-Image003.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image002.gif" src-large="/books/NBK52917/bin/ciss-Image002.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image001.gif" src-large="/books/NBK52917/bin/ciss-Image001.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cold-induced sweating syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CNTF receptor-related disorders; Crisponi syndrome; Sohar-Crisponi syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cold-induced sweating syndrome (702363009); Ciliary neurotrophic factor receptor-related disorder (702363009); Sohar-Crisponi syndrome (702363009); Crisponi syndrome (725097006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/55975">KLHL7</a>, <a target="_blank" href="/gene/23529">CLCF1</a>, <a target="_blank" href="/gene/9244">CRLF1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015526" target="_blank">MONDO:0015526</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/272430" target="_blank">272430</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS272430" target="_blank">PS272430</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157820">ORPHA157820</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK52917" target="_blank">Cold-Induced Sweating Syndrome Including Crisponi Syndrome</a></div><div>Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK52917#ciss.Summary" target="NBK52917">Summary</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Diagnosis" target="NBK52917">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Clinical_Characteristics" target="NBK52917">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Genetically_Related_Allelic_Disorde" target="NBK52917">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Differential_Diagnosis" target="NBK52917">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Management" target="NBK52917">Management</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Genetic_Counseling" target="NBK52917">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Resources" target="NBK52917">Resources</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Molecular_Genetics" target="NBK52917">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Chapter_Notes" target="NBK52917">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.References" target="NBK52917">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Angelika F Hahn | Per Morten Knappskog <a href="/books/NBK52917" target="NBK52917" title="NCBI Bookshelf: Cold-Induced Sweating Syndrome Including Crisponi Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.<br /><br />Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death.<br /><br />Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments.<br /><br />Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome">https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832409[DISCUI]&test_type=Clinical" ref="ncbi_uid=321950">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321950" target="_blank" href="/omim/272430">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=321950">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321950" ref="ncbi_uid=321950">V</a></span></span><span class="TLline">Cold-induced sweating syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848947[DISCUI]&test_type=Clinical" ref="ncbi_uid=338577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338577" target="_blank" href="/omim/272430">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=338577">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338577" ref="ncbi_uid=338577">V</a></span></span><span class="TLline"><a href="/medgen/338577" ref="tree=GTR&ncbi_uid=338577&link_uid=338577" title="View MedGen record for 'Cold-induced sweating syndrome 1'">Cold-induced sweating syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853198[DISCUI]&test_type=Clinical" ref="ncbi_uid=342816">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342816" target="_blank" href="/omim/607672">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=342816">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342816" ref="ncbi_uid=342816">V</a></span></span><span class="TLline"><a href="/medgen/342816" ref="tree=GTR&ncbi_uid=342816&link_uid=342816" title="View MedGen record for 'Cold-induced sweating syndrome 2'">Cold-induced sweating syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310742[DISCUI]&test_type=Clinical" ref="ncbi_uid=934709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934709" target="_blank" href="/omim/611119">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934709" ref="ncbi_uid=934709">V</a></span></span><span class="TLline"><a href="/medgen/934709" ref="tree=GTR&ncbi_uid=934709&link_uid=934709" title="View MedGen record for 'PERCHING syndrome'">PERCHING syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842440" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome - hyperthermia spectrum">Cold-induced sweating syndrome - hyperthermia spectrum</a></span><ul><li><span class="matched_ds">Cold-induced sweating syndrome</span><ul><li><span class="TLline"><a href="/medgen/338577" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome 1">Cold-induced sweating syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342816" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome 2">Cold-induced sweating syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/934709" ref="tree=MeSH" title="MedGen record for PERCHING syndrome">PERCHING syndrome</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1701&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Cold-induced sweating syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31497877">Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buers I,
|
||
Persico I,
|
||
Schöning L,
|
||
Nitschke Y,
|
||
Di Rocco M,
|
||
Loi A,
|
||
Sahi PK,
|
||
Utine GE,
|
||
Bayraktar-Tanyeri B,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):209-221.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1111/cge.13639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31497877" target="_blank">31497877</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cold-induced%20sweating%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26858303">Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsen JV,
|
||
Kristensen AM,
|
||
Pallesen LT,
|
||
Bauer J,
|
||
Vægter CB,
|
||
Nielsen MS,
|
||
Madsen P,
|
||
Petersen CM</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Biol</span>
|
||
2016 Apr;36(8):1272-86.
|
||
Epub 2016 Mar 31
|
||
doi: 10.1128/MCB.00917-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26858303" target="_blank">26858303</a><a href="/pmc/articles/PMC4836274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26565815">Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testani E,
|
||
Della Marca G,
|
||
La Torraca I,
|
||
Vollono C,
|
||
Crisponi G,
|
||
Zampino G,
|
||
Valeriani M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2016 Jun;54(1):100-3.
|
||
Epub 2016 Feb 26
|
||
doi: 10.1002/mus.24976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26565815" target="_blank">26565815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17436252">Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crisponi L,
|
||
Crisponi G,
|
||
Meloni A,
|
||
Toliat MR,
|
||
Nurnberg G,
|
||
Usala G,
|
||
Uda M,
|
||
Masala M,
|
||
Hohne W,
|
||
Becker C,
|
||
Marongiu M,
|
||
Chiappe F,
|
||
Kleta R,
|
||
Rauch A,
|
||
Wollnik B,
|
||
Strasser F,
|
||
Reese T,
|
||
Jakobs C,
|
||
Kurlemann G,
|
||
Cao A,
|
||
Nurnberg P,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 May;80(5):971-81.
|
||
Epub 2007 Mar 30
|
||
doi: 10.1086/516843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17436252" target="_blank">17436252</a><a href="/pmc/articles/PMC1852730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35102033">Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akleyin E,
|
||
Yeniçeri Özata M,
|
||
Crisponi G</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2022 Jul 1;31(3):136-140.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1097/MCD.0000000000000413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35102033" target="_blank">35102033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33910095">Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolkiran A,
|
||
Ürel-Demir G,
|
||
Şimşek-Kiper PÖ,
|
||
Utine GE</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Jul;64(7):104229.
|
||
Epub 2021 Apr 25
|
||
doi: 10.1016/j.ejmg.2021.104229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33910095" target="_blank">33910095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31497877">Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buers I,
|
||
Persico I,
|
||
Schöning L,
|
||
Nitschke Y,
|
||
Di Rocco M,
|
||
Loi A,
|
||
Sahi PK,
|
||
Utine GE,
|
||
Bayraktar-Tanyeri B,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):209-221.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1111/cge.13639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31497877" target="_blank">31497877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30859550">Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angius A,
|
||
Uva P,
|
||
Oppo M,
|
||
Buers I,
|
||
Persico I,
|
||
Onano S,
|
||
Cuccuru G,
|
||
Van Allen MI,
|
||
Hulait G,
|
||
Aubertin G,
|
||
Muntoni F,
|
||
Fry AE,
|
||
Annerén G,
|
||
Stattin EL,
|
||
Palomares-Bralo M,
|
||
Santos-Simarro F,
|
||
Cucca F,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 May;95(5):607-614.
|
||
Epub 2019 Mar 28
|
||
doi: 10.1111/cge.13532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30859550" target="_blank">30859550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27977424">A new case series of Crisponi syndrome in a Turkish family and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayraktar-Tanyeri B,
|
||
Hepokur M,
|
||
Bayraktar S,
|
||
Persico I,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2017 Apr;26(2):66-72.
|
||
doi: 10.1097/MCD.0000000000000163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27977424" target="_blank">27977424</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189552">Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Dokla AM,
|
||
Ferdous J,
|
||
Ali ST,
|
||
Alam K</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2017 Dec;19(2):76-79.
|
||
doi: 10.1097/CND.0000000000000184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189552" target="_blank">29189552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20975058">Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Leo R,
|
||
Nolano M,
|
||
Boman H,
|
||
Pierangeli G,
|
||
Provitera V,
|
||
Knappskog PM,
|
||
Cortelli P,
|
||
Vita G,
|
||
Rodolico C</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2010 Oct 26;75(17):1567-9.
|
||
doi: 10.1212/WNL.0b013e3181f96237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20975058" target="_blank">20975058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16952376">Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Jones DL,
|
||
Knappskog PM,
|
||
Boman H,
|
||
McLeod JG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2006 Dec 1;250(1-2):62-70.
|
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Epub 2006 Sep 6
|
||
doi: 10.1016/j.jns.2006.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16952376" target="_blank">16952376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12509788">Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knappskog PM,
|
||
Majewski J,
|
||
Livneh A,
|
||
Nilsen PT,
|
||
Bringsli JS,
|
||
Ott J,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2003 Feb;72(2):375-83.
|
||
Epub 2002 Dec 31
|
||
doi: 10.1086/346120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12509788" target="_blank">12509788</a><a href="/pmc/articles/PMC379230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488861">Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piras R,
|
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Chiappe F,
|
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Torraca IL,
|
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Buers I,
|
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Usala G,
|
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Angius A,
|
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Akin MA,
|
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Basel-Vanagaite L,
|
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Benedicenti F,
|
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Chiodin E,
|
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El Assy O,
|
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Feingold-Zadok M,
|
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Guibert J,
|
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Kamien B,
|
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Kasapkara CS,
|
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Kiliç E,
|
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Boduroğlu K,
|
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Kurtoglu S,
|
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Manzur AY,
|
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Onal EE,
|
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Paderi E,
|
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Roche CH,
|
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Tümer L,
|
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Unal S,
|
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Utine GE,
|
||
Zanda G,
|
||
Zankl A,
|
||
Zampino G,
|
||
Crisponi G,
|
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Crisponi L,
|
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Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Apr;35(4):424-33.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1002/humu.22522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488861" target="_blank">24488861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21326283">Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herholz J,
|
||
Meloni A,
|
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Marongiu M,
|
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Chiappe F,
|
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Deiana M,
|
||
Herrero CR,
|
||
Zampino G,
|
||
Hamamy H,
|
||
Zalloum Y,
|
||
Waaler PE,
|
||
Crisponi G,
|
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Crisponi L,
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Rutsch F</span><br />
|
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<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 May;19(5):525-33.
|
||
Epub 2011 Feb 16
|
||
doi: 10.1038/ejhg.2010.253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21326283" target="_blank">21326283</a><a href="/pmc/articles/PMC3083629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16782820">Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rousseau F,
|
||
Gauchat JF,
|
||
McLeod JG,
|
||
Chevalier S,
|
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Guillet C,
|
||
Guilhot F,
|
||
Cognet I,
|
||
Froger J,
|
||
Hahn AF,
|
||
Knappskog PM,
|
||
Gascan H,
|
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Boman H</span><br />
|
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<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2006 Jun 27;103(26):10068-73.
|
||
Epub 2006 Jun 16
|
||
doi: 10.1073/pnas.0509598103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16782820" target="_blank">16782820</a><a href="/pmc/articles/PMC1502507" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39336700">Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onesimo R,
|
||
Sforza E,
|
||
Palermo F,
|
||
Giorgio V,
|
||
Leoni C,
|
||
Rigante D,
|
||
Trevisan V,
|
||
Agazzi C,
|
||
Limongelli D,
|
||
Proli F,
|
||
Kuczynska EM,
|
||
Crisponi L,
|
||
Crisponi G,
|
||
Zampino G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Aug 23;15(9)
|
||
doi: 10.3390/genes15091109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39336700" target="_blank">39336700</a><a href="/pmc/articles/PMC11431494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38842921">Reduced serum CLCF1 levels in hyperthyroidism patients and T3-treated mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou X,
|
||
Zhang Y,
|
||
Yuan Y,
|
||
Teng F,
|
||
Lin J,
|
||
Ye X,
|
||
Pan Y,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol</span>
|
||
2024 Aug 1;262(2)
|
||
Epub 2024 Jul 3
|
||
doi: 10.1530/JOE-23-0412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38842921" target="_blank">38842921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699517">Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz Gulec E,
|
||
Turgut GT,
|
||
Gezdirici A,
|
||
Karaman V,
|
||
Ozturk FN,
|
||
Avci S,
|
||
Kalayci T,
|
||
Senturk L,
|
||
Ayaz A,
|
||
Kayserili H,
|
||
Uyguner ZO,
|
||
Altunoğlu U</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Sep;102(3):201-217.
|
||
Epub 2022 Jul 12
|
||
doi: 10.1111/cge.14177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699517" target="_blank">35699517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16952376">Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Jones DL,
|
||
Knappskog PM,
|
||
Boman H,
|
||
McLeod JG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2006 Dec 1;250(1-2):62-70.
|
||
Epub 2006 Sep 6
|
||
doi: 10.1016/j.jns.2006.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16952376" target="_blank">16952376</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1832409%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832409%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832409%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832409%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1832409%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS272430" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=157820" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cold-induced%20sweating%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cold-induced%20sweating%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/crisponi_cold_induced_sweating_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cold-induced%20sweating%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16983/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed/21370513" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
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||
<a href="/pubmed/clinical?term=Cold-induced%20sweating%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
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<li>
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<a href="/pubmed?term=Cold-induced%20sweating%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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</li>
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=321950" ref="log$=recordlinks">MeSH</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d37afc67c23b31e097960a">Cold-induced sweating syndrome 2</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d37ae384f3725e591cf19e">Table 7. [Cold-Induced Sweating Syndrome / Crisponi Syndrome (CISS/CS): CRLF1 No...</a>
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